Amino Acid Catabolism

Question 1

Methylmalonic acidemia

Answer 1

Methylmalonyl-CoA mutase def. buildup of Methylmalonic acid

can result from severe B12 def

Question 2

Maple Syrup Urine Disease (MSUD)

Answer 2

def. BRANCHED (leucine, isoleucine, valine) chain a-keto dehydrogenase def

I Love Vermone Maple Syrup (ILE)

limit ILE intake

Question 3

PKU

Answer 3

Phenylalanine buildup. Phenylalanine Hydroxylase (PAH) def. mental retardation

restrict phenylalanine.

Question 4

Tyrosinemia Type I

Answer 4

cabbage-like odor. (NOT Tyrosine buildup).

restrict Tyrosine and Phenylalanine

Question 5

Tyrosinemia Type II

Answer 5

Tyrosine buildup. Tyrosine aminotransferase def. mental retardation.

Question 6

Alcaptonuria

Answer 6

urine dark brown. Homogentisate builduip. premature arthritis.

Question 7

Homocystinuria

Answer 7

bone development issues. mental retardation. homocysteine and methionine buildup. PLP deficiency.

B6 supp. low methionine